Canonical Allele Identifier: CA2667540563

Gene: GATA2

Linked Data

• gnomAD v4: 3-128482025-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128482025_128482026insA , CM000665.2:g.128482025_128482026insA	GRCh38
NC_000003.11:g.128200868_128200869insA , CM000665.1:g.128200868_128200869insA	GRCh37
NC_000003.10:g.129683558_129683559insA	NCBI36
NG_029334.1:g.16162_16163insT , LRG_295:g.16162_16163insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-82_1018-81insT MANE Plus Clinical	ENSP00000417074.1:n.1018-82_1018-81insT
ENST00000696466.1:c.1300-82_1300-81insT	ENSP00000512647.1:n.1300-82_1300-81insT
ENST00000341105.7:c.1018-82_1018-81insT MANE Select	ENSP00000345681.2:n.1018-82_1018-81insT
ENST00000341105.6:c.1018-82_1018-81insT	ENSP00000345681.2:n.1018-82_1018-81insT
ENST00000430265.6:c.1018-124_1018-123insT	ENSP00000400259.2:n.1018-124_1018-123insT
ENST00000487848.5:c.1018-82_1018-81insT	ENSP00000417074.1:n.1018-82_1018-81insT
ENST00000489987.1:n.53_54insT
NM_001145661.1:c.1018-82_1018-81insT , LRG_295t1:c.1018-82_1018-81insT	NP_001139133.1:n.1018-82_1018-81insT
NM_001145662.1:c.1018-124_1018-123insT	NP_001139134.1:n.1018-124_1018-123insT
NM_032638.4:c.1018-82_1018-81insT , LRG_295t2:c.1018-82_1018-81insT	NP_116027.2:n.1018-82_1018-81insT
NM_001145661.2:c.1018-82_1018-81insT MANE Plus Clinical	NP_001139133.1:n.1018-82_1018-81insT
NM_032638.5:c.1018-82_1018-81insT MANE Select	NP_116027.2:n.1018-82_1018-81insT